loading...| Preferred Name |
Canavan Disease |
|
| Synonyms |
Deficiency Disease, Aspartoacylase |
|
| Definitions |
A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D017825 |
|
| altLabel |
Deficiency Disease, Aspartoacylase Aminoacylase 2 Deficiency Type I Canavan Disease Van Bogaert Bertrand Syndrome Spongy Degeneration Of Central Nervous System Juvenile Canavan Disease ACY2 Deficiency Infantile Canavan Disease Spongy Degeneration of White Matter In Infancy Spongy Degeneration of the Central Nervous System Type III Canavan Disease Canavan Disease, Familial Form Canavan Disease, Type I Canavan Disease, Neonatal Spongiform Leukodystrophy Type II Canavan Disease Spongy Degeneration of the Brain Neonatal Canavan Disease Syndrome, Van Bogaert-Bertrand Canavan Disease, Infantile Canavan Disease, Type II Canavan Disease, Sporadic Form Van Bogaert-Bertrand Syndrome Canavan Disease, Juvenile Canavan-van Bogaert-Bertrand Disease Von Bogaert Bertrand Disease Von Bogaert-Bertrand Disease Sporadic Form of Canavan Disease Spongy Disease of White Matter Spongy Degeneration of Infancy Leukodystrophy, Spongiform Disease, Von Bogaert-Bertrand Canavan van Bogaert Bertrand Disease Disease, Canavan-van Bogaert-Bertrand Disease, Canavan ASPA Deficiency Aspartoacylase Deficiency ASP Deficiency Familial Form of Canavan Disease Spongy Disease of Central Nervous System Canavan Disease, Type III |
|
| AN |
do not confuse entry term CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C3542499 C0751666 C0751667 C0751664 C0206307 C0751663 C0751665 |
|
| DC |
1 |
|
| definition |
A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71) |
|
| DX |
19940101 |
|
| HN |
94 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
94 |
|
| MDA |
19930216 |
|
| MMR |
20190524 |
|
| MN |
C16.320.400.150 C10.228.140.695.625.375 C18.452.648.189.362.375 C18.452.132.100.362.375 C10.314.400.375 C16.320.565.189.362.375 C10.228.140.163.100.362.375 C10.574.500.300 |
|
| notation |
D017825 |
|
| prefLabel |
Canavan Disease |
|
| TERMUI |
T371385 T371374 T761509 T371383 T844191 T841060 T371390 T371371 T371377 T053279 T371372 T053278 T371391 T371380 T841061 T844192 T371384 T053277 T761391 T371375 T053280 T812099 T371382 T371376 T371378 T371381 T371392 T371373 T053281 T371379 T844190 T761393 T841059 T761392 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1994) GHR (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |